GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3751 - 3775** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ACE AKR1C4 ALPI ALPP CALR CAT CD177 CEACAM5 CEACAM6 CHI3L1 CHIT1 FREM1 G6PD IDH1 IDH2 IL18R1 LDHA LDHB LGALS1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PRG2 SELP SOAT1 STS TBXAS1 TP53	1048 1109 1116 1118 158326 1636 248 250 2539 3417 3418 3939 3945 3956 3958 412 4680 5290 5291 5293 5294 5553 57126 6403 6646 6916 7157 811 847 8809	Homo sapiens (human)
DOID:0050868	hepatocellular adenoma	CYP2E1	1571	Homo sapiens (human)
DOID:5374	pilomatrixoma Aliases: Pilomatricoma benign pilomatricoma	MUTYH SDC1	4595 6382	Homo sapiens (human)
DOID:628	combined T cell and B cell immunodeficiency Aliases: Congenital Combined Immunodeficiency	FUT1 IL18R1 PGK1 PGM3 PIK3CD PNP	2523 4860 5230 5238 5293 8809	Homo sapiens (human)
DOID:9498	pulmonary eosinophilia	ALPL CEL CHI3L1 IL1R1 IL1RL1 ISYNA1 PARP9 SIGLEC8 SIRT2 SLC27A5	1056 10998 1116 22933 249 27181 3554 51477 83666 9173	Homo sapiens (human)
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)
DOID:3081	cystic lymphangioma Aliases: cystic Hygroma	LPL PIK3CA SLC26A2 TGDS	1836 23483 4023 5290	Homo sapiens (human)
DOID:11156	anhidrosis Aliases: Adiaphoresis absence of sweating	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)
DOID:379	external ear disease Aliases: Preauricular cyst Preauricular sinus and fistula Preauricular sinus or fistula	SMUG1	23583	Homo sapiens (human)
DOID:2855	hyperthyroxinemia	ADH5	128	Homo sapiens (human)
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	CLEC16A CYP24A1 CYP2R1 RPE TNF	120227 1591 23274 6120 7124	Homo sapiens (human)
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:0110479	autosomal recessive nonsyndromic deafness 21 Aliases: DFNB21 autosomal recessive deafness 21	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:7165	subacute thyroiditis Aliases: De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:8463	corneal ulcer	AMT LGALS3 NGLY1 PTGS2 SFTPA1 SFTPA2 SFTPD TNF	275 3958 55768 5743 6441 653509 7124 729238	Homo sapiens (human)
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	ACAN ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 DDOST EXT1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1650 176 1890 2131 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	ACSM3 CPO	130749 6296	Homo sapiens (human)
DOID:0060735	epidermolysis bullosa simplex Dowling-Meara type Aliases: EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex	PLOD3	8985	Homo sapiens (human)
DOID:0060708	lymphoproliferative syndrome 2 Aliases: CD27 deficiency LPFS2	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:14268	sclerosing cholangitis Aliases: fibrosing cholangitis	AGA ARSA B3GAT1 CD14 CEACAM5 CEACAM7 CLEC16A DLAT FUT2 FUT3 GAL3ST2 ICAM1 IL18R1 IL1R1 INPP5A KLRK1 LSS MANBA MGLL MICA NCAM1 NEIL1 PIK3CD PLA2G10 PLA2G2A PLA2G2D PNPLA3 PTGES PTGS2 SDC1 SLC17A5 SMUG1 STS	100507436 1048 1087 11343 1737 175 22914 23274 23583 2524 2525 26279 26503 27087 3383 3554 3632 4047 410 412 4126 4684 5293 5320 5743 6382 64090 79661 80339 8399 8809 929 9536	Homo sapiens (human)

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